应用荧光原位杂交技术进行胚胎种植前遗传学诊断的临床分析

Clinical analysis of preimplantation genetic diagnosis with fluorescence in situ hybridization

目的:探讨应用荧光原位杂交(fluorescence in situ hybridisation,FISH)技术对染色体异常携带者进行种植前胚胎遗传学诊断(preimplantation genetic diagnosis,PGD)的临床意义。方法:根据携带者染色体异常种类,分别选择相应的亚端粒探针和着丝粒探针或性染色体探针,进行1次或者2次杂交,对7例染色体异常携带者进行了胚胎种植前遗传学诊断。结果:7例染色体异常携带者进行了7个周期的PGD,获卵131枚,活检77枚胚胎,检出卵裂球87枚,移植20枚胚胎,4例临床妊娠,其中2例已分娩健康婴儿。结论:应用荧光原位杂交技术对染色体异常携带者的胚胎进行种植前遗传学诊断是一种有效方法。

OBJECTIVE：To evaluate clinical significance of application of fluorescence in situ hybridization in preimplantation genetic diagnosis （PGD） for carriers of chromosomal abnormalities. METHODS： according to the categories of chromosomal abnormalities,we selected the appropriate sub-telomeric probes and centromere probes,or sex chromosome probe,hybridized once or twice so the 7 carriers received preimplantation genetic diagnosis. RESULTS： Preimplantation genetic diagnosis were performed in 7 cycles of 7 couples. A total of 131 oocytes were retrived,77 embryos were available for biopsy,87 blastomeres detected,20 embryos transplanted,4 clinical pregnancies obtained,and 2 healthy babies had been. CONCLUSION： Application of fluorescence in situ hybridization technique in preimplantation embryo genetic diagnosis for carriers of chromosomal abnormalities was an effective way.